ArticleKorean journal of pediatrics2011
Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A.
Article in Korean journal of pediatrics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 6 citations in OpenAlex.
- Novel compound heterozygous mutations inHeliyon · 2024Article
- Muscle channelopathies: A review.Annals of the Child Neurology Society · 2023Review
- Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review.Case reports in genetics · 2020Article
- Mutational consequences of aberrant ion channels in neurological disorders.The Journal of membrane biology · 2014Review
- Treatment and management of neuromuscular channelopathies.Current treatment options in neurology · 2014Article
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2 authors at 1 institution in 1 country.
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Abstract
Familial hyperkalemic periodic paralysis (HYPP) is an autosomaldominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene SCN4A have been reported to be responsible for this disease. Here, we report the case of a 16-year-old girl with HYPP whose mutational analysis revealed a heterozygous c.2111C>T substitution in the SCN4A gene leading to a Thr704Met mutation in the protein sequence. The parents were clinically unaffected and did not have a mutation in the SCN4A gene. A de novo SCN4A mutation for familial HYPP has not previously been reported. The patient did not respond to acetazolamide, but showed a marked improvement in paralytic symptoms upon treatment with hydrochlorothiazide. The findings in this case indicate that a de novo mutation needs to be considered when an isolated family member is found to have a HYPP phenotype.
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